Miglustat is administered, dose is adjusted according to Body Surface Area as below:
>1.25 : 200 mg TDS 0.88-1.25 : 200mg BID 0.73-0.88 :100mg TDS 0.47-0.73 : 100mg BID <0.47 :100mg daily

GM2 Gangliosidosis

Supportive Care

Treatment with Zavesca regimen based on body surface area as follows: SQRT [Height (cm) × Weight (kg)] / 3600 <1.25 : 200mg TDS 0.88- 1.25: 200mg BID 0.73- 0.88: 100 mg TDS 0.47- 0.73: 100 mg BID <0.47: 100 mg Daily

Miglustat

Kashan University Of Medical Sciences

Mashhad University Of Medical Sciences

Tehran University Of Medical Sciences

Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)

Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases

A total score is reported according to Pediatric Quality Of Life Inventory Infant Scales. Total score range is between 0-45 and higher values represent worse outcomes.

Tavasoli

Principal investigator

Tehran University of Medical Sciences

Mashhad University of Medical Sciences

Kashan University of Medical Sciences

Although randomized control trial is the gold standard for clinical trial studies; there are ethical concerns about placebo control group in rare diseases such as Sandhoff and Tay sachs diseases.

Patients with Hyaline fibromatosis syndrome or high-grade suspicion for Hyaline fibromatosis syndrome

For the development of the new biomarkers using the technique of Mass-spectometry, a blood sample will be taken from patient via using a dry blood spot filter card. To proof the correct Hyaline fibromatosis syndrome diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of Hyaline fibromatosis syndrome will be done. The analyses will be done at: Centogene AG Am Strande 7 18055 Rostock Germany

Hyalinosis

Hyaline Membrane Disease

Juvenile Hyaline Fibromatosis

Fibromatosis Hyalinica Multiplex Juvenilis

Skin and Connective Tissue Diseases

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.

Centogene AG

NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist

Lady Ridgeway Hospital for Children

Biomarker for Hyaline Fibromatosis Syndrome (BioHFS)

Biomarker for Hyaline Fibromatosis Syndrome - An International, Multicenter, Epidemiological Protocol

Next-Generation Sequencing (NGS) of the ANTXR2 gene will be performed. The mutation will be confirmed by Sanger sequencing.

The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

contracture/diarrea

Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)

Biomarker for Hyaline Fibromatosis Syndrome (BioHFS)

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